| Modification Notes |
LANCL1 (LanC lantibiotic synthetase component C-like 1), also known as p40 or GPR69A, is a 399 amino acid protein that localizes to both the cytoplasm and the membrane and belongs to the LanC-like protein family. Expressed ubiquitously with strong expression in heart, brain, kidney, pancreas, testis, ovary and skeletal muscle, LANCL1 interacts with Stomatin and may function as a peptide-modifying enzyme component in eukaryotic cells. The gene encoding LANCL1 maps to human chromosome 2, which houses over 1,400 genes and comprises nearly 8% of the human genome. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene, while the lipid metabolic disorder sitosterolemia is associated with defects in the ABCG5 and ABCG8 genes. Additionally, an extremely rare recessive genetic disorder, Alström syndrome, is caused by mutations in the ALMS1 gene, which maps to chromosome 2. |